Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

ORPHA:420429

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

ORPHA:206443